Canonical Allele Identifier: CA674546536

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs1199595255
• gnomAD v3: 11-2148823-T-G
• gnomAD v4: 11-2148823-T-G
• MyVariant Identifiers: chr11:g.2170053T>G (hg19) ; chr11:g.2148823T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2148823T>G , CM000673.2:g.2148823T>G	GRCh38
NC_000011.9:g.2170053T>G , CM000673.1:g.2170053T>G	GRCh37
NC_000011.8:g.2126629T>G	NCBI36
NG_008849.1:g.5781A>C
NG_050578.1:g.17387A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000481781.3:c.-249+303A>C (IGF2)	ENSP00000511998.1:n.-249+303A>C
ENST00000643349.2:c.254+303A>C	ENSP00000495715.1:n.254+303A>C
ENST00000695541.1:c.-249+303A>C (IGF2)	ENSP00000511997.1:n.-249+303A>C
ENST00000481781.2:n.345+303A>C
ENST00000643349.1:c.254+303A>C	ENSP00000495715.1:n.254+303A>C
ENST00000356578.8:c.407+303A>C (INS-IGF2)	ENSP00000348986.4:n.407+303A>C
ENST00000397270.1:c.407+303A>C (INS-IGF2)	ENSP00000380440.1:n.407+303A>C
ENST00000481781.1:n.612+303A>C (INS-IGF2)
NM_001007139.5:c.-249+303A>C (IGF2)	NP_001007140.2:n.-249+303A>C
NM_001042376.2:c.407+303A>C (INS-IGF2)	NP_001035835.1:n.407+303A>C
NR_003512.3:n.466+303A>C (INS-IGF2)
NM_001042376.3:c.407+303A>C (INS-IGF2)	NP_001035835.1:n.407+303A>C
NR_003512.4:n.466+303A>C (INS-IGF2)
NM_001007139.6:c.-249+303A>C (IGF2)	NP_001007140.2:n.-249+303A>C